Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397509402
rs397509402
ERCC4
1 1.000 16 13928132 missense variant T/C snv 4.0E-06 0.800 1.000 2 2013 2013
dbSNP: rs147105770
rs147105770
ERCC4
8 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.700 1.000 6 2010 2016
dbSNP: rs1451008479
rs1451008479
ERCC4
1 1.000 16 13947953 missense variant C/T snv 4.0E-06 0.700 1.000 2 2013 2013
dbSNP: rs1555468482
rs1555468482
ERCC4
3 0.882 0.240 16 13935663 frameshift variant C/- del 0.700 1.000 1 2013 2013
dbSNP: rs149364215
rs149364215
ERCC4
1 1.000 16 13947661 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs397509400
rs397509400
ERCC4
2 0.925 16 13935414 splice donor variant CTCAA/- delins 0.700 0
dbSNP: rs397509401
rs397509401
ERCC4
1 1.000 16 13947966 frameshift variant -/CTTACACTTCACTTCCCCAGACTACGGA delins 0.700 0